Revel Score:
ENST00000371321 (MANE Select)
0.314
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00337858 (AMR)
Genomes Max Group AF
0.00543564 (AMR)
Exomes Max Group AF
0.00245916 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762706A>G , CM000672.2:g.94762706A>G | GRCh38 |
| NC_000010.10:g.96522463A>G , CM000672.1:g.96522463A>G | GRCh37 |
| NC_000010.9:g.96512453A>G | NCBI36 |
| NG_008384.2:g.5001A>G | |
| NG_008384.3:g.5026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1A>G MANE Select | ENSP00000360372.3:p.Met1Val | |
| ENST00000371321.7:c.1A>G | ENSP00000360372.3:p.Met1Val | |
| ENST00000464755.1:c.932-12352A>G | ENSP00000483243.1:n.932-12352A>G | |
| ENST00000480405.2:c.1A>G | ENSP00000483847.1:p.Met1Val | |
| NM_000769.2:c.1A>G | NP_000760.1:p.Met1Val | |
| NM_000769.4:c.1A>G MANE Select | NP_000760.1:p.Met1Val |